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Mutation detection

JAK2 Exon 14 Deletion in Patients with Chronic Myeloproliferative Neoplasms

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Xiuqiang Wang, Zhong Zhang, Chen-Hsiung Yeh, Susan O'Brien, Francis Giles, Jean Marie Bruey, Maher Albitar

published 13 Aug 2010

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Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Aurelia Santoro, Valentina Balbi, Elisa Balducci, Chiara Pirazzini, Francesca Rosini, Francesca Tavano, Alessandro Achilli, Paola Siviero, Nadia Minicuci, Elena Bellavista, Michele Mishto, Stefano Salvioli, Francesca Marchegiani, Maurizio Cardelli, Fabiola Olivieri, Benedetta Nacmias, Andrea Maria Chiamenti, Luisa Benussi, Roberta Ghidoni, Giuseppina Rose, Carlo Gabelli, Giuliano Binetti, Sandro Sorbi, Gaetano Crepaldi, Giuseppe Passarino, Antonio Torroni, Claudio Franceschi

published 06 Aug 2010

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Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver

published 26 Jul 2010

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Molecular Ecology of Pyrethroid Knockdown Resistance in Culex pipiens pallens Mosquitoes

Lin Chen, Daibin Zhong, Donghui Zhang, Linna Shi, Guofa Zhou, Maoqing Gong, Huayun Zhou, Yan Sun, Lei Ma, Ji He, Shanchao Hong, Dan Zhou, Chunrong Xiong, Chen Chen, Ping Zou, Changliang Zhu, Guiyun Yan

published 21 Jul 2010

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Whole-Genome Sequencing Reveals Distinct Mutational Patterns in Closely Related Laboratory and Naturally Propagated Francisella tularensis Strains

Andreas Sjödin, Kerstin Svensson, Marie Lindgren, Mats Forsman, Pär Larsson

published 19 Jul 2010

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Dynamics of HIV-1 Quasispecies during Antiviral Treatment Dissected Using Ultra-Deep Pyrosequencing

Charlotte Hedskog, Mattias Mild, Johanna Jernberg, Ellen Sherwood, Göran Bratt, Thomas Leitner, Joakim Lundeberg, Björn Andersson, Jan Albert

published 07 Jul 2010

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UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

Michael L. Nickerson, Brittany N. Kostiha, Wolfgang Brandt, William Fredericks, Ke-Ping Xu, Fu-Shin Yu, Bert Gold, James Chodosh, Marc Goldberg, Da Wen Lu, Masakazu Yamada, Timo M. Tervo, Richard Grutzmacher, Chris Croasdale, Maria Hoeltzenbein, John Sutphin, S. Bruce Malkowicz, Ludger Wessjohann, Howard S. Kruth, Michael Dean, Jayne S. Weiss

published 21 May 2010

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HIV Drug Resistance Surveillance Using Pooled Pyrosequencing

Hezhao Ji, Nathalie Massé, Shaun Tyler, Ben Liang, Yang Li, Harriet Merks, Morag Graham, Paul Sandstrom, James Brooks

published 17 Feb 2010

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Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients

Valerie Ugo, Sylvie Tondeur, Marie-Laurence Menot, Nadine Bonnin, Gerald Le Gac, Carole Tonetti, Veronique Mansat-De Mas, Lydie Lecucq, Jean-Jacques Kiladjian, Christine Chomienne, Christine Dosquet, Nathalie Parquet, Luc Darnige, Marc Porneuf, Martine Escoffre-Barbe, Stephane Giraudier, Eric Delabesse, Bruno Cassinat, for the French Intergroup of Myeloproliferative disorders (FIM)

published 26 Jan 2010

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Two Multiplex Assays That Simultaneously Identify 22 Possible Mutation Sites in the KRAS, BRAF, NRAS and PIK3CA Genes

Irene Lurkin, Robert Stoehr, Carolyn D. Hurst, Angela A. G. van Tilborg, Margaret A. Knowles, Arndt Hartmann, Ellen C. Zwarthoff

published 21 Jan 2010

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Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

Suhail K. Mithani, Chunbo Shao, Marietta Tan, Ian M. Smith, Joseph A. Califano, Adel K. El-Naggar, Patrick K. Ha

published 30 Dec 2009

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Angiotensin I-Converting Enzyme Mutation (Trp1197Stop) Causes a Dramatic Increase in Blood ACE

Andrew B. Nesterovitch, Kyle D. Hogarth, Vyacheslav A. Adarichev, Elena I. Vinokour, David E. Schwartz, Julian Solway, Sergei M. Danilov

published 14 Dec 2009

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A Novel TRPC6 Mutation That Causes Childhood FSGS

Saskia F. Heeringa, Clemens C. Möller, Jianyang Du, Lixia Yue, Bernward Hinkes, Gil Chernin, Christopher N. Vlangos, Peter F. Hoyer, Jochen Reiser, Friedhelm Hildebrandt

published 10 Nov 2009

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